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Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/48619
DC FieldValueLanguage
dc.contributor.authorOlbrich, Peteren_US
dc.contributor.authorMartínez-Saavedra, Maria Teresaen_US
dc.contributor.authorPerez-Hurtado, José Mariaen_US
dc.contributor.authorSanchez, Cristinaen_US
dc.contributor.authorSanchez, Bertaen_US
dc.contributor.authorDeswarte, Carolineen_US
dc.contributor.authorObando, Ignacioen_US
dc.contributor.authorCasanova, Jean Laurenten_US
dc.contributor.authorSpeckmann, Carstenen_US
dc.contributor.authorBustamante, Jacintaen_US
dc.contributor.authorRodriguez-Gallego, Carlosen_US
dc.contributor.authorNeth, Olafen_US
dc.date.accessioned2018-11-23T23:27:07Z-
dc.date.available2018-11-23T23:27:07Z-
dc.date.issued2015en_US
dc.identifier.issn1545-5009en_US
dc.identifier.urihttp://hdl.handle.net/10553/48619-
dc.description.abstractAutosomal recessive (AR) complete Interferon-gamma Receptor1 (IFN-gamma R1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Although hematopoietic stem cell transplantation (HSCT) remains the only curative treatment, outcomes are heterogeneous; delayed engraftment and/or graft rejection being commonly observed. This case report and literature review expands the knowledge about this rare but potentially fatal pathology, providing details regarding diagnosis, antimicrobial treatment, transplant performance, and outcome that may help to guide physicians caring for patients with AR complete IFN-gamma R1 or IFN-gamma R2 deficiency.en_US
dc.languageengen_US
dc.relation.ispartofPediatric Blood and Canceren_US
dc.sourcePediatric Blood and Cancer[ISSN 1545-5009],v. 62, p. 2036-2039en_US
dc.subject32 Ciencias médicasen_US
dc.subject320110 Pediatríaen_US
dc.subject320101 Oncologíaen_US
dc.subject.otherStem-Cell Transplantationen_US
dc.subject.otherClinical-Featuresen_US
dc.subject.otherIfn-Gamma-R1 Deficiencyen_US
dc.subject.otherInfectionen_US
dc.subject.otherSusceptibilityen_US
dc.subject.otherDonoren_US
dc.titleDiagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiencyen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1002/pbc.25625en_US
dc.identifier.scopus84942133702-
dc.identifier.isi000364581100032-
dc.contributor.authorscopusid55181515300-
dc.contributor.authorscopusid56231072200-
dc.contributor.authorscopusid23498823900-
dc.contributor.authorscopusid57206883920-
dc.contributor.authorscopusid56865273900-
dc.contributor.authorscopusid56973521600-
dc.contributor.authorscopusid15822072600-
dc.contributor.authorscopusid6602945227-
dc.contributor.authorscopusid7201863327-
dc.contributor.authorscopusid6506655327-
dc.contributor.authorscopusid7006455592-
dc.contributor.authorscopusid6602114379-
dc.contributor.authorscopusid6506737455-
dc.description.lastpage2039en_US
dc.description.firstpage2036en_US
dc.relation.volume62en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.contributor.daisngid553385-
dc.contributor.daisngid33722043-
dc.contributor.daisngid2422184-
dc.contributor.daisngid28209285-
dc.contributor.daisngid1219135-
dc.contributor.daisngid800985-
dc.contributor.daisngid1211394-
dc.contributor.daisngid3953-
dc.contributor.daisngid403605-
dc.contributor.daisngid52668-
dc.contributor.daisngid603384-
dc.contributor.daisngid501336-
dc.description.numberofpages4en_US
dc.utils.revisionSíen_US
dc.contributor.wosstandardWOS:Olbrich, P-
dc.contributor.wosstandardWOS:Martinez-Saavedra, MT-
dc.contributor.wosstandardWOS:Perez-Hurtado, JM-
dc.contributor.wosstandardWOS:Sanchez, C-
dc.contributor.wosstandardWOS:Sanchez, B-
dc.contributor.wosstandardWOS:Deswarte, C-
dc.contributor.wosstandardWOS:Obando, I-
dc.contributor.wosstandardWOS:Casanova, JL-
dc.contributor.wosstandardWOS:Speckmann, C-
dc.contributor.wosstandardWOS:Bustamante, J-
dc.contributor.wosstandardWOS:Rodriguez-Gallego, C-
dc.contributor.wosstandardWOS:Neth, O-
dc.date.coverdateEnero 2015en_US
dc.identifier.ulpgcSíen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,479-
dc.description.jcr2,634-
dc.description.sjrqQ1-
dc.description.jcrqQ1-
dc.description.scieSCIE-
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR IUIBS: Farmacología Molecular y Traslacional-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0002-4344-8644-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameRodríguez Gallego, José Carlos-
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